Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults. Homozygous GRN mutations, on the other hand, lead to complete PGRN loss and cause neuronal ceroid lipofuscinosis (NCL), a lysoso...

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Publicado no:Sci Transl Med
Main Authors: Ward, Michael E., Chen, Robert, Huang, Hsin-Yi, Ludwig, Connor, Telpoukhovskaia, Maria, Taubes, Ali, Boudin, Helene, Minami, Sakura S., Reichert, Meredith, Albrecht, Philipp, Gelfand, Jeffrey M., Cruz-Herranz, Andres, Cordano, Christian, Alavi, Marcel V., Leslie, Shannon, Seeley, William W., Miller, Bruce L., Bigio, Eileen, Mesulam, Marek-Marsel, Bogyo, Matthew S., Mackenzie, Ian R., Staropoli, John F., Cotman, Susan L., Huang, Eric J., Gan, Li, Green, Ari J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5526610/
https://ncbi.nlm.nih.gov/pubmed/28404863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aah5642
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